V139M (p.Val139Met) variant of GJB1 (Gap junction beta-1 protein)
V139M (p.Val139Met) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V139M (p.Val139Met) variant details
- p.Val139Met
- rs104894812
- ClinGen CA340967
- ClinVar RCV000011178
- ClinVar RCV000545060
- Pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.67
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not p)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of… (PMID 11438991)